ESPE Abstracts

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: The diagnosis of GH deficiency (GHD) is not straightforward in childhood and adolescence, requiring comprehensive clinical, anthropometric, biochemical, endocrine, and neuroradiological assessment. Although pharmacological GH stimulation tests are still considered the gold standard for GHD diagnosis, they are burdened by both poor specificity and side effects. Several studies have addressed the issue of sensitivity and specificity of IGFBP-3 assess...

Background: Constitutional delay of growth and puberty (CDGP) is one of the most frequent norm variants in children presenting with short stature. Knowing the height, growth, and weight pattern of CDGP in the first years of life is important to distinguish CDGP from growth hormone deficiency (GHD) or other diseases.Methods: We studied height and weight in the first 5 years of life in 54 boys with CDGP including measureme...

Background: For children with retarded bone ages such as in constitutional delay of growth and puberty (CDGP) there are no specific methods to predict adult height based on bone age. Widely used methods such as Bayley-Pinneau (BP) tend to overestimate adult height in CDGP. Therefore, we aimed to develop a specific adult height prediction model for boys in pubertal age with retarded bone age >1 year.Methods</...

Background: CS is characterized by excess glucocorticoid excess, either endogenous or exogenous. In children younger than 7 years, the adrenal origin is the most common cause. From this age until adulthood predominates Cushing’s disease (central cause). We can divide CS in ACTH-dependent and independent according to laboratory findings. When ACTH-independent, etiologies are related to benign or malignant diseases of the adrenal or McCune Albright syndrome.<p class="ab...

Background: Dent’s disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Growth retardation, due to resistance to GH action is a feature commonly associated with Dent’s disease.Case report: We describe a boy diagnosed with Dent disease, treated with recombinant human GH. He was initially referred at 6 years of age...

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (&#87...

Background: Pubertal timing is influenced by a complex interaction among genetic, nutritional, environmental and socioeconomic factors. Over the past 30 years a trend in pubertal timing anticipation has been demonstrated. Environmental factors involved in this phenomenon are mainly represented by endocrine disruptors compounds (EDCs), such as pesticides, industrial compounds and persistent organic pollutants, estrogens and phytoestrogens.Objective and hy...

A 2.6-year-old girl of Egyptian origins comes to our attention due to a deflection of the growth rate. The girl was born small for gestational age (SGA), and is affected by congenital hypothyroidism, with normal sized thyroid, treated with Levothyroxine. At the age of 1.8, due to right lameness, an x-ray of pelvis and lower limbs was performed, as indicated by the orthopaedic. The examination showed absence of the distal tibial ossification nucleus in the right leg and entangl...